Variant report

Variant	esv3392456
Chromosome Location	chr6:141112308-141137774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMBR-2	chr6:141137269-141138214	NONHSAT115288
2	lnc-NMBR-2	chr6:141128740-141128958	NONHSAT115288

Extended variants
information (count: 816 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149660759	chr6:141112383-141112384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533550299	chr6:141112390-141112391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145484076	chr6:141112428-141112429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115502800	chr6:141112490-141112491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117545617	chr6:141112555-141112556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541806540	chr6:141112576-141112577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561267439	chr6:141112599-141112600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578126624	chr6:141112638-141112639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545642525	chr6:141112657-141112658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148847782	chr6:141112679-141112680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112454585	chr6:141112691-141112692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527682456	chr6:141112715-141112716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80308664	chr6:141112719-141112720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144046158	chr6:141112741-141112742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531868329	chr6:141112818-141112819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191431309	chr6:141112821-141112822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568996851	chr6:141112827-141112828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376340555	chr6:141112830-141112831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182979078	chr6:141112854-141112855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113061058	chr6:141112898-141112899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551606743	chr6:141112938-141112939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186017741	chr6:141112960-141112961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544117259	chr6:141112979-141112980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533536835	chr6:141113014-141113015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536671563	chr6:141113047-141113048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190428196	chr6:141113053-141113054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567000107	chr6:141113061-141113062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35424324	chr6:141113077-141113078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368772759	chr6:141113078-141113079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537521243	chr6:141113080-141113081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556000911	chr6:141113087-141113088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397887606	chr6:141113095-141113096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541878164	chr6:141113116-141113117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545321945	chr6:141113150-141113151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183373792	chr6:141113173-141113174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561543559	chr6:141113174-141113175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367939484	chr6:141113264-141113265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74451374	chr6:141113280-141113281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561236126	chr6:141113289-141113290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373014624	chr6:141113297-141113298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576518441	chr6:141113334-141113335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34973005	chr6:141113372-141113373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62431477	chr6:141113441-141113442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565239225	chr6:141113468-141113469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs632780	chr6:141113470-141113471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78316806	chr6:141113550-141113551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187830406	chr6:141113570-141113571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193025984	chr6:141113602-141113603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375455722	chr6:141113646-141113647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548888597	chr6:141113652-141113653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141089600-141121800	Weak transcription	Placenta	Placenta
2	chr6:141106400-141116000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:141121400-141121600	Active TSS	Osteobl	bone
4	chr6:141121600-141121800	Flanking Active TSS	Osteobl	bone
5	chr6:141121600-141122000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:141121800-141122000	Enhancers	Osteobl	bone
7	chr6:141124200-141125400	Enhancers	Fetal Heart	heart
8	chr6:141124200-141125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:141124400-141124600	Enhancers	Ovary	ovary
10	chr6:141124600-141125800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:141125200-141125600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:141125400-141125800	Enhancers	NHLF	lung
13	chr6:141125800-141130000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:141126400-141130000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:141129800-141130600	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:141129800-141131200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:141129800-141131200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:141129800-141131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:141130000-141131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:141130200-141130800	Enhancers	GM12878-XiMat	blood
21	chr6:141130800-141132800	Weak transcription	GM12878-XiMat	blood
22	chr6:141131000-141131200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:141132600-141133200	Enhancers	Ovary	ovary
24	chr6:141132800-141133000	Enhancers	GM12878-XiMat	blood
25	chr6:141133000-141133400	Active TSS	GM12878-XiMat	blood
26	chr6:141133200-141134600	Weak transcription	Ovary	ovary
27	chr6:141134600-141134800	ZNF genes & repeats	Ovary	ovary
28	chr6:141134800-141144800	Weak transcription	Ovary	ovary
29	chr6:141137200-141138000	Enhancers	Fetal Intestine Small	intestine
30	chr6:141137400-141137800	Enhancers	Fetal Intestine Large	intestine
31	chr6:141137400-141137800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:141137600-141139000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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